A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4319640



Internal ID20184917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:116884639..117230294hg38UCSC Ensembl
chr4:117805795..118151450hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38345656
hg19345656
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091327
Samples
Known GenesTRAM1L1
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4319640
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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